Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus.

Human molecular genetics - 1 Jun 1993

Watson C J, Gaunt L, Evans G, Patel K, Harris R, Strachan T

Abstract excerpt

RFLP typing of members of a neurofibromatosis type 2 (NF2) family suggested that affected individuals were hemizygous at the neurofilament heavy chain (NEFH) locus, possibly as a result of a disease-associated deletion. Conventional karyotyping revealed no evidence for a deletion and all or a majority of the affected family members were heterozygous for closely linked markers which mapped proximal to the NEFH...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Child
Share to Chromosome Mapping

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Genetic Markers

Share to Pedigree

Share to Polymorphism, Restriction Fragment Length

Share to Sequence Deletion

Source

Identifiers

PMID: 8102569
DOI: 10.1093/hmg/2.6.701

Genes

NEFH
LIF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus.PMID 8102569Read ↗

Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: possible localization of a neurofibromatosis type 2 modifier gene?Semantic proximity Read ↗

Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids.Semantic proximity Read ↗

Neurofibromatosis 2 and neurilemmomatosis gene are identical.Semantic proximity Read ↗

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.Semantic proximity Read ↗

Clinical manifestations and genetic analysis of a family with neurofibromatosis type 2.Semantic proximity Read ↗

Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types.Semantic proximity Read ↗

Large intragenic deletions of the NF2 gene: breakpoints and associated phenotypes.Semantic proximity Read ↗

Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2Semantic proximity Read ↗

Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma.Semantic proximity Read ↗

Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.Semantic proximity Read ↗

Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.Semantic proximity Read ↗

Screening for large mutations of the NF2 gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.